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Familial cystic renal disease

MedGen UID:
797698
•Concept ID:
CN206655
•
Disease or Syndrome
Synonyms: familial cystic renal disease; Genetic cystic renal disease; hereditary cystic kidney disease; Hereditary cystic renal disease
 
Monarch Initiative: MONDO:0019741
Orphanet: ORPHA93587

Definition

An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cystic renal disease
Follow this link to review classifications for Familial cystic renal disease in Orphanet.

Professional guidelines

PubMed

International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F
Nat Rev Nephrol 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. PMID: 31118499Free PMC Article
Renal Cell Carcinoma: Diagnosis and Management.
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent clinical studies

Etiology

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC
Am J Hum Genet 2022 Jan 6;109(1):136-156. Epub 2021 Dec 9 doi: 10.1016/j.ajhg.2021.11.016. PMID: 34890546Free PMC Article
Preventive screening for intracranial aneurysms.
Rinkel GJ, Ruigrok YM
Int J Stroke 2022 Jan;17(1):30-36. Epub 2021 Jun 17 doi: 10.1177/17474930211024584. PMID: 34042530Free PMC Article
WNT-β-catenin signalling - a versatile player in kidney injury and repair.
Schunk SJ, Floege J, Fliser D, Speer T
Nat Rev Nephrol 2021 Mar;17(3):172-184. Epub 2020 Sep 28 doi: 10.1038/s41581-020-00343-w. PMID: 32989282
Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Diagnosis

Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
Autosomal dominant tubulointerstitial kidney disease.
Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ
Nat Rev Dis Primers 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. PMID: 31488840
Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Polycystic kidney disease.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free PMC Article
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Therapy

Autosomal Dominant Polycystic Kidney Disease.
Perumareddi P, Trelka DP
Prim Care 2020 Dec;47(4):673-689. doi: 10.1016/j.pop.2020.08.010. PMID: 33121636
Etiology and management of early pregnancy renal anhydramnios: Is there a place for serial amnioinfusions?
Jelin AC, Sagaser KG, Forster KR, Ibekwe T, Norton ME, Jelin EB
Prenat Diagn 2020 Apr;40(5):528-537. Epub 2020 Feb 19 doi: 10.1002/pd.5658. PMID: 32003482Free PMC Article
Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Are Pax proteins potential therapeutic targets in kidney disease and cancer?
Grimley E, Dressler GR
Kidney Int 2018 Aug;94(2):259-267. Epub 2018 Apr 21 doi: 10.1016/j.kint.2018.01.025. PMID: 29685496Free PMC Article
Nephronophthisis: should we target cysts or fibrosis?
Slaats GG, Lilien MR, Giles RH
Pediatr Nephrol 2016 Apr;31(4):545-54. Epub 2015 Jul 29 doi: 10.1007/s00467-015-3162-y. PMID: 26219413

Prognosis

Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
Autosomal dominant polycystic kidney disease.
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Renal Cell Carcinoma: Diagnosis and Management.
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Polycystic kidney disease.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free PMC Article
Evaluation of hepatic cystic lesions.
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article

Clinical prediction guides

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T
JAMA 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. PMID: 36573973Free PMC Article
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O
Kidney Int 2020 Sep;98(3):717-731. Epub 2020 May 22 doi: 10.1016/j.kint.2020.04.038. PMID: 32450155
Renal Cell Carcinoma: Diagnosis and Management.
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250
Evaluation of hepatic cystic lesions.
Lantinga MA, Gevers TJ, Drenth JP
World J Gastroenterol 2013 Jun 21;19(23):3543-54. doi: 10.3748/wjg.v19.i23.3543. PMID: 23801855Free PMC Article

Recent systematic reviews

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.
Ge S, Yang M, Cui Y, Wu J, Xu L, Dong J, Liao L
Front Endocrinol (Lausanne) 2022;13:911526. Epub 2022 Jun 30 doi: 10.3389/fendo.2022.911526. PMID: 35846334Free PMC Article
Range and Variability of Outcomes Reported in Randomized Trials Conducted in Patients With Polycystic Kidney Disease: A Systematic Review.
Sautenet B, Cho Y, Gutman T, Rangan G, Ong A, Chapman AB, Ahn C, Coolican H, Tze-Wah Kao J, Fowler K, Gansevoort RT, Geneste C, Perrone RD, Harris T, Torres VE, Pei Y, Craig JC, Tong A; SONG-PKD Initiative
Am J Kidney Dis 2020 Aug;76(2):213-223. Epub 2020 Mar 11 doi: 10.1053/j.ajkd.2019.12.003. PMID: 32171640
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.
Cai H, Qing X, Niringiyumukiza JD, Zhan X, Mo D, Zhou Y, Shang X
Genet Med 2019 Apr;21(4):826-836. Epub 2018 Sep 14 doi: 10.1038/s41436-018-0262-7. PMID: 30214069Free PMC Article
Is Regular Screening for Intracranial Aneurysm Necessary in Patients with Autosomal Dominant Polycystic Kidney Disease? A Systematic Review and Meta-analysis.
Zhou Z, Xu Y, Delcourt C, Shan J, Li Q, Xu J, Hackett ML
Cerebrovasc Dis 2017;44(1-2):75-82. Epub 2017 May 13 doi: 10.1159/000476073. PMID: 28502970
Predictors of autosomal dominant polycystic kidney disease progression.
Schrier RW, Brosnahan G, Cadnapaphornchai MA, Chonchol M, Friend K, Gitomer B, Rossetti S
J Am Soc Nephrol 2014 Nov;25(11):2399-418. Epub 2014 Jun 12 doi: 10.1681/ASN.2013111184. PMID: 24925719Free PMC Article

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